ABEMUS: platform-specific and data-informed detection of somatic SNVs in cfDNA | Zendy

Nicola Casiraghi | Zendy; Francesco Orlando | Zendy; Yari Ciani | Zendy; Jenny Xiang | Zendy; Andrea Sboner | Zendy; Olivier Elemento | Zendy; Gerhardt Attard | Zendy; Himisha Beltran | Zendy; Francesca Demichelis | Zendy; Alessandro Romanel | Zendy

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ABEMUS: platform-specific and data-informed detection of somatic SNVs in cfDNA

Author(s) -

Nicola Casiraghi,

Francesco Orlando,

Yari Ciani,

Jenny Xiang,

Andrea Sboner,

Olivier Elemento,

Gerhardt Attard,

Himisha Beltran,

Francesca Demichelis,

Alessandro Romanel

Publication year - 2020

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btaa016

Subject(s) - computer science , somatic cell , dna sequencing , computational biology , deep sequencing , dna , biology , genome , genetics , gene

The use of liquid biopsies for cancer patients enables the non-invasive tracking of treatment response and tumor dynamics through single or serial blood drawn tests. Next-generation sequencing assays allow for the simultaneous interrogation of extended sets of somatic single-nucleotide variants (SNVs) in circulating cell-free DNA (cfDNA), a mixture of DNA molecules originating both from normal and tumor tissue cells. However, low circulating tumor DNA (ctDNA) fractions together with sequencing background noise and potential tumor heterogeneity challenge the ability to confidently call SNVs.

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